Gene Gene information from NCBI Gene database.
Entrez ID 7798
Gene name Leucine zipper protein 1
Gene symbol LUZP1
Synonyms (NCBI Gene)
LUZP
Chromosome 1
Chromosome location 1p36.12
Summary This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec
miRNA miRNA information provided by mirtarbase database.
823
miRTarBase ID miRNA Experiments Reference
MIRT001445 hsa-miR-16-5p pSILAC 18668040
MIRT020627 hsa-miR-155-5p Proteomics 18668040
MIRT021097 hsa-miR-186-5p Sequencing 20371350
MIRT023263 hsa-miR-122-5p Microarray 17612493
MIRT027026 hsa-miR-103a-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IDA 38009294
GO:0000775 Component Chromosome, centromeric region IEA
GO:0001725 Component Stress fiber IDA 30990684, 32553112, 38832964
GO:0001725 Component Stress fiber IEA
GO:0003281 Process Ventricular septum development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601422 14985 ENSG00000169641
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86V48
Protein name Leucine zipper protein 1 (Filamin mechanobinding actin cross-linking protein) (Fimbacin)
Protein function F-actin cross-linking protein (PubMed:30990684). Stabilizes actin and acts as a negative regulator of primary cilium formation (PubMed:32496561). Positively regulates the phosphorylation of both myosin II and protein phosphatase 1 regulatory sub
Family and domains
Sequence
MAEFTSYKETASSRHLRFKLQSLSRRLDELEEATKNLQKAEDELLDLQDKVIQAEGSNSS
MLAEIEVLRQRVLRIEGKDEEIKRAEDLCRLMKEKLEEEENLTRELKSEIERLQKRMAEL
EKLEEAFSRSKNDCTQLCLSLNEERNLTKKISSELEMLRVKVKELESSEDRLDKTEQSLA
SELEKLKSLTLSFVSERKYLNEKEKENEKLIKELTQKLEQNKKMNRDYTRNASNLERNDL
RIEDGISSTLPSKESRRKGGLDYLKQVENETRNKSENEKNRNQEDNKVKDLNQEIEKLKT
QIKHFESLEEELKKMKSKNNDLQDNYLSEQNKNKLLASQLEEIKLQIKKQKELENGEVEG
EDAFLSSKGRHERTKFRGHGSEASVSKHTARELSPQHKRERLRNREFALNNENYSLSNRQ
VSSPSFTNRRAAKASHMGVSTDSGTQETKKTEDRFVPGSSQSEGKKSREQPSVLSRYPPA
AQEHSKAWKGTSKPGTESGLKGKVEKTTRTFSDTTHGSVPSDPLGRADKASDTSSETVFG
KRGHVLGNGSQVTQAANSGCSKAIGALASSRRSSSEGLSKGKKAANGLEADNSCPNSKAP
VLSKYPYSCRSQENILQGFSTSHKEGVNQPAAVVMEDSSPHEALRCRVIKSSGREKPDSD
DDLDIASLVTAKLVNTTITPEPEPKPQPNSREKAKTRGAPRTSLFENDKDAGMENESVKS
VRASTNTMELPDTNGAGVKSQRPFSPREALRSRAIIKPVIVDKDVKKIMGGSGTETTLEK
QKPVSKPGPNKVTSSITIYPSDSSSPRAAPGEALRERHTSTSNIQVGLAELTSVSNHVSS
PFELSIHKHDITLQLAEAERMADGPLKDRPETVVSRSSIIIKPSDPVERNSHAPPAETIR
WKSHSAPSEVGFSDARHVTVRNAWKSRRDLKSLEDPPTRIGKNVESTNSNAYTQRSSTDF
SELEQPRSCLFEQGTRRVGPSSGDAPEPSSRRTQSSLTVSEVLTRRNRVGDTITVAAWNH
SASMEEEGEDCTLSVYRQLHNSLDPSELPGKQGLPESGRVRAEERLRPTRPCAEEN
Sequence length 1076
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
1P36 DELETION SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BELL'S PALSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Associate 26031464
★☆☆☆☆
Found in Text Mining only
Cardiovascular Abnormalities Associate 24454898
★☆☆☆☆
Found in Text Mining only
Heart Diseases Associate 24454898
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Associate 35148692
★☆☆☆☆
Found in Text Mining only